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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Hyperpipecolic acidemia
  • Pipecolic acidemia
Home > Rare Diseases and Related Terms > Hyperpipecolatemia



Hyperpipecolatemia
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Hyperpipecolatemia refers to the presence of abnormally high levels of pipecolic acid in the blood. It has been debated whether hyperpipecolatemia is generally a symptom of other known peroxisome biogenesis disorders (PBDs), a group of diseases caused by defective assembly of peroxisomes in cells (compartments that contain enzymes needed to break down many different substances). Although this is often the case, in some cases it is considered to be a separate disease entity that falls under the category of PBDs.[1] Additionally, elevations in pipecolic acid can also occur in pyridoxine-dependent epilepsy and in individuals with general psychomotor delay.[2] Signs and symptoms may vary widely in nature and severity depending on the underlying cause of the condition. When it is a feature of a PBD or pyridoxine-dependent epilepsy, it is inherited in an autosomal recessive manner.[1][2][3]


References
  1. Al-Essa MA, Chaves-Carballo E, Ozand PT. Hyperpipecolic acidemia: Clinical, biochemical, and radiologic observations. Pediatr Neurol. 1999;21:826-829;
  2. Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, Ann B Moser. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. January 18, 2011 Available at: http://www.ncbi.nlm.nih.gov/books/NBK1448/. Accessed July 26, 2011.
  3. Pyridoxine-dependent epilepsy. Genetics Home Reference. June 2008 Available at: http://ghr.nlm.nih.gov/condition/pyridoxine-dependent-epilepsy. Accessed July 26, 2011.
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Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
For more information about Hyperpipecolatemia click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 
More Detailed Information (Found 5 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

  • General

    • The Merck Manuals Online Medical Library provides information about peroxisomal disorders. Click on the link to view the information.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hyperpipecolatemia. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperpipecolatemia. Click on the link to view a sample search on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 10 resources)
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    • Epilepsy Foundation
      8301 Professional Place
      East Landover, MD 20785-2238
      Toll-free: 800-EFA-1000 (800-332-1000)
      Telephone: 301-459-3700
      Fax: 301-577-4941
      E-mail: info@efa.org    
      Web site: http://www.epilepsyfoundation.org/
    • Developmental Delay Resources (DDR)
      5801 Beacon Street
      Pittsburgh, PA 15217
      Toll-free: 1-800-497-0944
      Fax: 412-422-1374
      E-mail: devdelay@mindspring.com
      Web site: http://www.devdelay.org
    • Children's Craniofacial Association
      13140 Coit Road Suite 517
      Dallas TX 75240
      Toll-free: 1-800-535-3643
      Telephone: 214-570-9099
      Fax: 214-570-8811
      E-mail: contactCCA@ccakids.com  
      Web site: http://www.ccakids.com/
    • American Association on Intellectual and Developmental Disabilities
      444 North Capitol Street, NW
      Suite 846
      Washington, D.C. 20001-1512
      Telephone: (202) 387-1968 
      Toll free: (800) 424-3688
      Fax: (202) 387-2193
      Web site: http://www.aaidd.org
    • American Epilepsy Society
      342 North Main Street
      West Hartford CT 06117-2507
      Telephone: 860-586-7505
      Fax: 860-586-7550
      E-mail: info@aesnet.org
      Web site: www.aesnet.org
  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 
Services (Found 2 resources)
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    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 2 resources)
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  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • ClinicalTrials.gov lists trials that are studying or have studied Hyperpipecolatemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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